Capillary malformations in a child caused by a novel HRAS mutation

Abstract

AbstractA 6‐year‐old boy with multiple capillary malformations of the port‐wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic HRAS 30 bp in‐frame duplication/insertion in the switch II domain. This case illustrates the phenotypic overlap of different genotypes and shows that somatic HRAS pathogenic variants, especially in‐frame duplications/insertions, must be added to the list of the underlying causes in capillary malformations.